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Aliases for AGL Gene

Aliases for AGL Gene

  • Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3 5
  • Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3
  • Glycogen Debranching Enzyme 2 3
  • Glycogen Debrancher 3 4
  • GDE 3 4
  • Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferaseprovided 3
  • Glycogen Storage Disease Type III 2
  • Glycogen Debranching Protein 3

External Ids for AGL Gene

Previous GeneCards Identifiers for AGL Gene

  • GC01P101113
  • GC01P099441
  • GC01P099606
  • GC01P099778
  • GC01P100027
  • GC01P100088
  • GC01P100315
  • GC01P098438

Summaries for AGL Gene

Entrez Gene Summary for AGL Gene

  • This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for AGL Gene

AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase) is a Protein Coding gene. Diseases associated with AGL include Glycogen Storage Disease Iiia and Glycogen Storage Disease Iv. Among its related pathways are Metabolism and Galactose metabolism. GO annotations related to this gene include carbohydrate binding and polysaccharide binding.

UniProtKB/Swiss-Prot for AGL Gene

  • Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.

Tocris Summary for AGL Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for AGL Gene

Additional gene information for AGL Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGL Gene

Genomics for AGL Gene

Regulatory Elements for AGL Gene

Enhancers for AGL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H100036 1.3 ENCODE dbSUPER 10.4 +188.7 188650 4.1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SP3 SP5 ZHX2 MFSD14A SASS6 LRRC39 TRMT13 SLC30A7 BRI3P1 RTCA AGL ENSG00000241073
GH01H099848 1.4 Ensembl ENCODE 6.7 +0.4 428 4.2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143 SASS6 AGL GC01P099965
GH01H099681 1.3 Ensembl ENCODE dbSUPER 4.6 -167.5 -167463 2.8 INSM2 RAD21 BRCA1 ZEB1 RFX5 ZNF366 FOS SP3 CEBPB TSHZ1 PALMD FRRS1 AGL GC01P099667 HMGB3P10
GH01H099672 1.4 FANTOM5 ENCODE dbSUPER 3.6 -176.8 -176756 2.6 GTF2F1 TBP PKNOX1 MAX RAD21 NFYB HNF4G CHD2 TCF7L2 JUNB PALMD AGL GC01P099667 HMGB3P10
GH01H100035 0.4 Ensembl 10.4 +186.0 186024 0.6 ZNF600 MLLT1 AGL MFSD14A GC01P100031
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGL on UCSC Golden Path with GeneCards custom track

Promoters for AGL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000010597 623 2200 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143

Transcription factor binding sites by QIAGEN in the AGL gene promoter:

Genomic Locations for AGL Gene

Genomic Locations for AGL Gene
73,947 bases
Plus strand

Genomic View for AGL Gene

Genes around AGL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGL Gene

Proteins for AGL Gene

  • Protein details for AGL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycogen debranching enzyme
    Protein Accession:
    Secondary Accessions:
    • A6NCX7
    • A6NEK2
    • D3DT51
    • P78354
    • P78544
    • Q59H92
    • Q6AZ90
    • Q9UF08

    Protein attributes for AGL Gene

    1532 amino acids
    Molecular mass:
    174764 Da
    Quaternary structure:
    • Monomer. Interacts with NHLRC1/malin.
    • Sequence=BAD92104.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGL Gene


neXtProt entry for AGL Gene

Post-translational modifications for AGL Gene

No data available for DME Specific Peptides for AGL Gene

Domains & Families for AGL Gene

Gene Families for AGL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for AGL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycogen debranching enzyme family.
  • Belongs to the glycogen debranching enzyme family.
genes like me logo Genes that share domains with AGL: view

Function for AGL Gene

Molecular function for AGL Gene

GENATLAS Biochemistry:
amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle specific and four further minor alternatively spliced isoforms
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be glucose or a (1->4)-alpha-D-glucan.
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.
UniProtKB/Swiss-Prot Function:
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.

Phenotypes From GWAS Catalog for AGL Gene

Gene Ontology (GO) - Molecular Function for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004133 glycogen debranching enzyme activity TAS 1374391
GO:0004134 4-alpha-glucanotransferase activity IBA,EXP --
GO:0004135 amylo-alpha-1,6-glucosidase activity IBA,EXP --
GO:0005515 protein binding IPI 17908927
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with AGL: view
genes like me logo Genes that share phenotypes with AGL: view

Human Phenotype Ontology for AGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGL Gene

MGI Knock Outs for AGL:
  • Agl tm1a(EUCOMM)Wtsi
  • Agl tm1Geno
  • Agl tm1b(EUCOMM)Wtsi

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AGL Gene

Localization for AGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGL Gene

Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGL gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
endoplasmic reticulum 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 17908927
GO:0005829 cytosol TAS --
GO:0016234 inclusion body IEA --
genes like me logo Genes that share ontologies with AGL: view

Pathways & Interactions for AGL Gene

genes like me logo Genes that share pathways with AGL: view

Pathways by source for AGL Gene

2 KEGG pathways for AGL Gene
1 GeneGo (Thomson Reuters) pathway for AGL Gene

Gene Ontology (GO) - Biological Process for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005977 glycogen metabolic process IEA --
GO:0005978 glycogen biosynthetic process IEA --
GO:0005980 glycogen catabolic process IBA,TAS --
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with AGL: view

No data available for SIGNOR curated interactions for AGL Gene

Drugs & Compounds for AGL Gene

(10) Drugs for AGL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved Pharma 0
Water Approved Pharma 0
maltose Experimental Pharma 0

(8) Additional Compounds for AGL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
  • (1,4-alpha-D-Glucosyl)N
  • (1,4-alpha-D-Glucosyl)N+1
  • (1,4-alpha-D-Glucosyl)N-1
  • (1,4-alpha-delta-Glucosyl)N
  • (1,4-alpha-delta-Glucosyl)N+1
  • British gum
  • Caloreen
  • Corn dextrin
  • Crystal gum
  • Dextrid

(5) Tocris Compounds for AGL Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
genes like me logo Genes that share compounds with AGL: view

Transcripts for AGL Gene

Unigene Clusters for AGL Gene

Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AGL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^
SP2: -
SP5: - -
SP7: -

ExUns: 20 ^ 21 ^ 22

Relevant External Links for AGL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AGL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AGL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGL Gene

This gene is overexpressed in Muscle - Skeletal (x10.5).

Protein differential expression in normal tissues from HIPED for AGL Gene

This gene is overexpressed in Retina (28.0) and Liver, secretome (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AGL Gene

Protein tissue co-expression partners for AGL Gene

NURSA nuclear receptor signaling pathways regulating expression of AGL Gene:


SOURCE GeneReport for Unigene cluster for AGL Gene:


mRNA Expression by UniProt/SwissProt for AGL Gene:

Tissue specificity: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.

Evidence on tissue expression from TISSUES for AGL Gene

  • Liver(4.9)
  • Muscle(4.7)
  • Nervous system(4.5)
  • Eye(4.3)
  • Heart(4)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • heart
  • heart valve
  • adrenal gland
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • hand
  • lower limb
  • upper limb
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with AGL: view

Orthologs for AGL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AGL 33 34
  • 99.7 (n)
(Canis familiaris)
Mammalia AGL 34 33
  • 93.06 (n)
(Bos Taurus)
Mammalia AGL 34 33
  • 91.73 (n)
(Monodelphis domestica)
Mammalia AGL 34
  • 88 (a)
(Rattus norvegicus)
Mammalia Agl 33
  • 87.25 (n)
(Mus musculus)
Mammalia Agl 16 34 33
  • 86.16 (n)
(Ornithorhynchus anatinus)
Mammalia AGL 34
  • 83 (a)
(Gallus gallus)
Aves AGL 34
  • 82 (a)
(Anolis carolinensis)
Reptilia AGL 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia agl 33
  • 70.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22218 33
(Danio rerio)
Actinopterygii aglb 34
  • 72 (a)
agla 33 34
  • 68.8 (n)
CABZ01041804.1 34
  • 63 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5559 33
fruit fly
(Drosophila melanogaster)
Insecta CG9485 35 33 34
  • 52.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001200 33
  • 50.59 (n)
(Caenorhabditis elegans)
Secernentea agl-1 33 34
  • 50.93 (n)
R06A4.8 35
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDB1 33 34 36 36 36
  • 51.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL276C 33
  • 47.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00743 33
  • 46.88 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4153 33
Species where no ortholog for AGL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGL Gene

Gene Tree for AGL (if available)
Gene Tree for AGL (if available)

Paralogs for AGL Gene

No data available for Paralogs for AGL Gene

Variants for AGL Gene

Sequence variations from dbSNP and Humsavar for AGL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs118203964 Pathogenic, Glycogen storage disease 3 (GSD3) [MIM:232400] 99,916,492(+) ACCAA(C/G)GACCT reference, missense
rs1057516545 Pathogenic 99,870,488(+) TTAGA(-/CAGA)GCACT reference, frameshift-variant
rs1057517243 Pathogenic 99,861,696(+) TTTCA(-/G)TATTA reference, frameshift-variant
rs113994126 Pathogenic 99,851,058(+) GTAAA(C/T)AGATT reference, stop-gained, utr-variant-5-prime
rs113994127 Pathogenic 99,851,059(+) TAAAC(-/AG)ATTCG reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for AGL Gene

Variant ID Type Subtype PubMed ID
nsv947436 CNV duplication 23825009
nsv526047 CNV gain 19592680
nsv523220 CNV loss 19592680
nsv428146 CNV gain 18775914
nsv1132827 CNV insertion 24896259
nsv1003259 CNV loss 25217958
nsv1002853 CNV gain 25217958
esv3357668 CNV insertion 20981092
esv3304048 CNV mobile element insertion 20981092
esv2758952 CNV loss 17122850
esv2655277 CNV deletion 19546169

Variation tolerance for AGL Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.67; 91.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGL Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGL Gene

Disorders for AGL Gene

MalaCards: The human disease database

(12) MalaCards diseases for AGL Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease iiia
  • glycogen storage disease iiib
glycogen storage disease iv
  • amylopectinosis
glycogen storage disease
  • glycogenoses
finger agnosia
  • hypoglycaemia
- elite association - COSMIC cancer census association via MalaCards
Search AGL in MalaCards View complete list of genes associated with diseases


  • Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. {ECO:0000269 PubMed:10571954, ECO:0000269 PubMed:17908927}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGL

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AGL: view

No data available for Genatlas for AGL Gene

Publications for AGL Gene

  1. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PMID: 11378828) Santer R … Schaub J (European journal of human genetics : EJHG 2001) 3 22 45 60
  2. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PMID: 10982190) Okubo M … Murase T (Human genetics 2000) 3 4 22 60
  3. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PMID: 8990006) Shen J … Chen YT (Human mutation 1997) 3 22 45 60
  4. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PMID: 9332391) Bao Y … Chen YT (Gene 1997) 3 4 22 60
  5. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PMID: 8702417) Okubo M … Murase T (Biochemical and biophysical research communications 1996) 3 22 45 60

Products for AGL Gene

Sources for AGL Gene

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